What is Battens Disease?
The four main forms are:
Infantile
Onset between 6 months and 2 years, rapidly progressing with
seizures, dementia, blindness and a severe loss of neurones.
Death normally occurs in mid childhood.
Late Infantile
Onset between 2 and 4 years, leading to seizures, blindness, loss of
muscle coordination, mental
deterioration and dementia. Death normally occurs
between the ages of 8 and 12.
Juvenile
Onset between 5 and 9 years, characterised by developmental regression,
leading, amongst other
things, to vision loss, seizures, loss of motor abilities
and dementia.Death may occur any time from the
late teens to the mid thirties.
Adult
Onset normally before the age of fourteen, symptoms are milder
than the other forms of the disease.
Age of death is variable but life
expectancy is shortened. In addition, there are
several other less common
subgroups. Batten Disease is rarely diagnosed immediately and is often mistaken
for epilepsy, mental retardation, retinitis pigmentosa, even schizophrenia in adults.
An opthalmologist can
observe pathological changes in the retina.
This often provides one of the first diagnostic clues.
Onset
is characterised by beginning vision loss, seizures,
clumsiness and personality and behavioural changes. Batten Disease causes
continuing physical and mental deterioration, leading to death.
It is a recessive inherited disease, meaning both parents must carry the
same gene. A child must
inherit a copy of the bad gene from both parents
in order to be affected. A child that inherits a bad copy
from just one parent
will be a carrier. The group of diseases known as Batten Disease or the Neuronal
Ceroid Lipofuscinoses (NCL) are progressive degenerative, genetic metabolic
diseases that occur
in children and adults. The condition is named after the British
paediatrician who first described it in 1903.
Batten Disease is relatively rare
occurring in about one in 30,000 births. The illness leads to a progressive
deterioration of the brain and nervous system.
Although our understanding of Batten Disease is improving all the time,
there is at present no cure
or treatment that has any significant impact
on the inexorable decline in bodily functions and
inevitable early death.
A number of different forms of Batten Disease have been identified. They are
classified by age but are all genetically different.